Adrenocortical carcinoma differential diagnosis: Difference between revisions

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==DIfferentiating Adrenocortical carcinoma from other diseases==
<small>
{| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align="center"
|+
! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Disease}}
! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Gene}}
! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Chromosome}}
! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Differentiating Features}}
! colspan="3" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Components of MEN}}
! rowspan="2" style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Diagnosis}}
|-
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Parathyroid}}
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Pitutary}}
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Pancreas}}
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |[[von Hippel-Lindau syndrome]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Von Hippel–Lindau tumor suppressor
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |3p25.3
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* Angiomatosis, 
* Hemangioblastomas,
* Pheochromocytoma, 
* Renal cell carcinoma,
* Pancreatic cysts (pancreatic serous cystadenoma)
* Endolymphatic sac tumor,
* Bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women)
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | +
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* Clinical diagnosis
* In hereditary VHL, disease techniques such as Southern blotting and gene sequencing can be used to analyse DNA and identify mutations.
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Carney complex]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| PRKAR1A
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"| 17q23-q24
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"|
* Myxomas of the heart
* Hyperpigmentation of the skin (lentiginosis)
* Endocrine (ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease)
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* Clinical diagnosis
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Neurofibromatosis type 1]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"|RAS
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"|17
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold"|
* [[Scoliosis]]
* Learning disabilities
* [[Vision]] disorders
* Cutaneous [[lesion]]s
* [[Epilepsy]].
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |'''<u>Prenatal</u>'''
* Chorionic villus sampling or amniocentesis can be used to detect NF-1 in the fetus.
'''<u>Postnatal</u>'''
Cardinal Clinical Features" are required for positive diagnosis.
* Six or more café-au-lait spots over 5 mm in greatest diameter in pre-pubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals.
* Two or more neurofibromas of any type or 1 plexiform neurofibroma
* Freckling in the axillary (Crowe sign) or inguinal regions
* Optic glioma
* Two or more Lisch nodules (pigmented iris hamartomas)
* A distinctive osseous lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or without pseudarthrosis.
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold"  |[[Li-Fraumeni syndrome]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |TP53
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Early onset of diverse amount of [[cancer]]s such as
* [[Sarcoma]]
* [[Cancer]]s of 
** [[Breast]]
** [[Brain]]
** [[Adrenal gland]]s
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
'''<u>Criteria</u>'''
* Sarcoma at a young age (below 45)
* A first-degree relative diagnosed with any cancer at a young age (below 45)
* A first or second degree relative with any cancer diagnosed before age 60.
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold"  |[[Gardner's syndrome]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | APC
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | 5q21
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* Multiple polyps in the colon 
* Osteomas of the skull
* Thyroid cancer,
* Epidermoid cysts,
* Fibromas
* Desmoid tumors
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* Clinical diagnosis
* Colonoscopy
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Multiple endocrine neoplasia type 2]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |''RET''
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* [[Medullary thyroid carcinoma]] (MTC)
* [[Pheochromocytoma]]
* Primary [[hyperparathyroidism]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | +
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* [[Hypercalcemia]]
* [[Hypophosphatemia]],
* Elevated [[parathyroid hormone]],
* Elevated [[norepinephrine]]
'''<u>Criteria</u>'''
Two or more specific endocrine tumors
* [[Medullary thyroid carcinoma]]
* [[Pheochromocytoma]]
* [[Parathyroid]] hyperplasia
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Cowden syndrome]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |PTEN
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Hamartomas
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* ''PTEN'' mutation probability risk calculator
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Acromegaly]]/[[gigantism]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* Enlargement of the [[hand]]s, [[feet]], [[nose]], [[lip]]s and [[ear]]s, and a general thickening of the [[skin]]
* [[Hypertrichosis]]
* [[Hyperpigmentation]]
* [[Hyperhidrosis]]
* [[Carpal tunnel syndrome]].
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* An elevated concentration of serum [[Growth hormone|growth hormone (GH)]] and [[Insulin-like growth factor|insulin-like growth factor 1(IGF-1)]] levels is diagnostic of acromegaly.
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pituitary adenoma]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | -
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* [[Visual field defect]]s classically [[bitemporal hemianopsia]]
* Increased [[intracranial pressure]]
* [[Migraine]]
* [[Lateral rectus]] palsy
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
:*Elevated serum level of  [[prolactin]]
:*Elevated or decreased serum level of  [[adrenocorticotropic hormone]] (ACTH)
:*Elevated or decreased serum level of  [[growth hormone]] (GH)
:*Elevated or decreased serum level of  [[thyroid-stimulating hormone]] (TSH)
:*Elevated or decreased serum level of  [[follicle-stimulating hormone]] (FSH)
:*Elevated or decreased serum level of  [[luteinizing hormone]] (LH)
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Hyperparathyroidism]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
* [[Kidney stone]]s
* [[Hypercalcemia]],
* [[Constipation]]
* [[Peptic ulcer]]s
* [[Depression]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>+</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* An elevated concentration of serum [[calcium]] with elevated [[parathyroid hormone]] level is diagnostic of primary hyperparathyroidism.
* Most consistent laboratory findings associated with the diagnosis of secondary hyperparathyroidism include elevated serum [[parathyroid hormone]] level and low to normal serum [[calcium]].
* An elevated concentration of serum [[calcium]] with elevated [[parathyroid hormone]] level in post [[Kidney transplantation|renal transplant]] patients is diagnostic of tertiary hyperparathyoidism.
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Pheochromocytoma]]/[[paraganglioma]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
''VHL''
''RET''
''NF1''  
''SDHB'' 
''SDHD''
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |Characterized by
* Episodic [[hypertension]]
* [[Palpitation]]s
* [[Anxiety]]
* [[Diaphoresis]]
* [[Weight loss]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* Increased catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection.
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |[[Adrenocortical carcinoma]]
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
*p53
*Retinoblastoma h19
*Insulin-like growth factor II (IGF-II)
*p57<sup>kip2</sup>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |17p, 13q 
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* [[Cushing syndrome]] ([[cortisol]] hypersecretion)
* [[Conn syndrome]] ([[aldosterone]] hypersecretion)
* [[virilization]] ([[testosterone]] hypersecretion)
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" |
* Increased serum glucose
* Increased urine cortisol
* Serum androstenedione and dehydroepiandrosterone
* Low serum potassium
* Low plasma renin activity
* High serum aldosterone.
* Excess serum estrogen.
|-
| colspan="8" style="padding: 5px 5px; background: #F5F5F5;" |<small>Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013<ref name="pmid23917672">{{cite journal| author=Toledo SP, Lourenço DM, Toledo RA| title=A differential diagnosis of inherited endocrine tumors and their tumor counterparts. | journal=Clinics (Sao Paulo) | year= 2013 | volume= 68 | issue= 7 | pages= 1039-56 | pmid=23917672 | doi=10.6061/clinics/2013(07)24 | pmc=PMC3715026 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23917672  }} </ref> </small>
|}
</small>


==References==
==References==
{{reflist|2}}
{{reflist|2}}
[[Category:Endocrinology]]
[[Category:Endocrinology]]

Revision as of 19:18, 18 October 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2] Ahmad Al Maradni, M.D. [3] {Mohammed Abdelwahed M.D[4]

Overview

Adrenocortical carcinoma must be differentiated from other adrenal tumors such as adrenocortical adenoma, adrenal metastasis, adrenal medullary tumors, and Cushing's syndrome.

Differentiating Adrenal Carcinoma from other Diseases

Adrenocortical carcinoma must be differentiated from other adrenal tumors such as adrenocortical adenoma, adrenal metastasis, adrenal medullary tumors, and Cushing's syndrome.

Differential Diagnosis Clinical picture Imagings Laboratory tests
Adrenocortical carcinoma
Adrenal adenoma
Cushing's syndrome
  • Imaging may show mass if presents
Pheochromocytoma
Adrenal metastasis

DIfferentiating Adrenocortical carcinoma from other diseases

Disease Gene Chromosome Differentiating Features Components of MEN Diagnosis
Parathyroid Pitutary Pancreas
von Hippel-Lindau syndrome Von Hippel–Lindau tumor suppressor 3p25.3
  • Angiomatosis, 
  • Hemangioblastomas,
  • Pheochromocytoma, 
  • Renal cell carcinoma,
  • Pancreatic cysts (pancreatic serous cystadenoma)
  • Endolymphatic sac tumor,
  • Bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women)
- - +
  • Clinical diagnosis
  • In hereditary VHL, disease techniques such as Southern blotting and gene sequencing can be used to analyse DNA and identify mutations.
Carney complex  PRKAR1A 17q23-q24
  • Myxomas of the heart
  • Hyperpigmentation of the skin (lentiginosis)
  • Endocrine (ACTH-independent Cushing's syndrome due to primary pigmented nodular adrenocortical disease)
- - -
  • Clinical diagnosis
Neurofibromatosis type 1 RAS 17 - - - Prenatal
  • Chorionic villus sampling or amniocentesis can be used to detect NF-1 in the fetus.

Postnatal Cardinal Clinical Features" are required for positive diagnosis.

  • Six or more café-au-lait spots over 5 mm in greatest diameter in pre-pubertal individuals and over 15 mm in greatest diameter in post-pubertal individuals.
  • Two or more neurofibromas of any type or 1 plexiform neurofibroma
  • Freckling in the axillary (Crowe sign) or inguinal regions
  • Optic glioma
  • Two or more Lisch nodules (pigmented iris hamartomas)
  • A distinctive osseous lesion such as sphenoid dysplasia, or thinning of the long bone cortex with or without pseudarthrosis.
Li-Fraumeni syndrome TP53 17 Early onset of diverse amount of cancers such as - - -

Criteria

  • Sarcoma at a young age (below 45)
  • A first-degree relative diagnosed with any cancer at a young age (below 45)
  • A first or second degree relative with any cancer diagnosed before age 60.
Gardner's syndrome APC  5q21
  • Multiple polyps in the colon 
  • Osteomas of the skull
  • Thyroid cancer,
  • Epidermoid cysts,
  • Fibromas
  • Desmoid tumors
- - -
  • Clinical diagnosis
  • Colonoscopy
Multiple endocrine neoplasia type 2 RET - + - -

Criteria Two or more specific endocrine tumors

Cowden syndrome PTEN -  Hamartomas - - -
  • PTEN mutation probability risk calculator
Acromegaly/gigantism - - - + -
Pituitary adenoma - - - + -
Hyperparathyroidism - - - + - -
  • An elevated concentration of serum calcium with elevated parathyroid hormone level is diagnostic of primary hyperparathyroidism.
  • Most consistent laboratory findings associated with the diagnosis of secondary hyperparathyroidism include elevated serum parathyroid hormone level and low to normal serum calcium.
  • An elevated concentration of serum calcium with elevated parathyroid hormone level in post renal transplant patients is diagnostic of tertiary hyperparathyoidism.
Pheochromocytoma/paraganglioma

VHL RET NF1   SDHB  SDHD

- Characterized by - - -
  • Increased catecholamines and metanephrines in plasma (blood) or through a 24-hour urine collection.
Adrenocortical carcinoma
  • p53
  • Retinoblastoma h19
  • Insulin-like growth factor II (IGF-II)
  • p57kip2
17p, 13q  - - -
  • Increased serum glucose
  • Increased urine cortisol
  • Serum androstenedione and dehydroepiandrosterone
  • Low serum potassium
  • Low plasma renin activity
  • High serum aldosterone.
  • Excess serum estrogen.
Adapted from Toledo SP, Lourenço DM, Toledo RA. A differential diagnosis of inherited endocrine tumors and their tumor counterparts, journal=Clinics (Sao Paulo), volume= 68, issue= 7, 07/24/2013[2]

References

  1. Manolopoulou J, Fischer E, Dietz A, Diederich S, Holmes D, Junnila R; et al. (2015). "Clinical validation for the aldosterone-to-renin ratio and aldosterone suppression testing using simultaneous fully automated chemiluminescence immunoassays". J Hypertens. 33 (12): 2500–11. doi:10.1097/HJH.0000000000000727. PMID 26372319.
  2. Toledo SP, Lourenço DM, Toledo RA (2013). "A differential diagnosis of inherited endocrine tumors and their tumor counterparts". Clinics (Sao Paulo). 68 (7): 1039–56. doi:10.6061/clinics/2013(07)24. PMC 3715026. PMID 23917672.